Endocrine Abstracts

A 33-year-old male presented with headache and visual loss in May 2003. MRI pituitary showed a large tumor arising from pituitary fossa extending to suprasellar cistern compressing the optic chiasm with features recent infarction. He subsequently underwent urgent trans-sphenoidal decompression and a necrotic prolactinoma was excised with full recovery of his vision. His prolactin level remained elevated and so he was treated with cabergoline. Further questioning revealed that his mother had also had a macro-prolactinoma, as well as a multi nodular goitre. Genetic analysis of the MENIN gene was therefore performed which was normal and both continue to have normal serum calcium levels.

However, his initial MRI scan also revealed a mass arising in the right carotid space. He subsequently underwent trans-cervical resection of this tumour, and histological examination revealed a benign paraganglioma or glomus vagale tumour.

The index case was therefore tested for SDH mutations and a mis-sense mutation discovered in the SDHB gene. Subsequent analysis confirmed that his mother also carries this SDHB variant.

Both patients have now been entered into surveillance screening for recurrent paraganglioma and pheochromocytoma, and a further possible paraganglioma has been identified in the index case, currently under evaluation.

To our knowledge, this is the first reported case of familial prolactinoma arising in conjunction with paraganglioma and SDHB mutation.

This raises two issues. Firstly SDHB should be considered a candidate gene for familial prolactinomas and possibly other familial pituitary tumours. Secondly, it raises the possibility that SDHB positive patients (familial paraganglioma syndrome PGL type 4) should be screened for pituitary tumours as well as recurrent phaeochromocytomas and paragangliomas. Screening programmes currently vary widely in different centres, and Internationally agreed guidelines are urgently needed.